Movement disorders associated with chromosomal aberrations diagnosed in adult patients

Abstract

Introduction. Chromosomal aberrations are rare but important causes of various movement disorders. In cases of movement disorders associated with dysmorphic features, multiorgan involvement and/or intellectual disability, the identification of causative chromosomal aberrations should be considered.Aim of the study. The purpose of this article was to summarise clinical findings in six patients with dystonia and two with parkinsonism and identified chromosomal aberrations in a single-centre prospective study.Materials and methods. 15 adult patients with dystonia or parkinsonism were referred to array comparative genomic hybridisation (aCGH) testing from our Department of Neurology between 2014 and 2019. Additionally, one patient had a karyotype examination. Detailed clinical, psychological and radiological diagnostics were performed in each case.Results. Chromosomal aberrations were identified in six patients with dystonia and two with parkinsonism. Two patients were identified with aberrations associated with de Grouchy syndrome. We also reported generalised dystonia in patients with deletion in 3q26.31 and duplication in 3p26.3, as well as dystonia and hypoacusis in a patient with duplication in Xq26.3. One patient was diagnosed with duplication in 21q21.1. Early-onset parkinsonism was a manifestation of deletion in the 2q24.1 region. Late onset parkinsonism was also present in the patient with the most severe aberrations (duplication 1q21.1q44; deletion 10p15.3p15.1; deletion 10q11.21).Conclusions. Dystonia and parkinsonism are possible manifestations of chromosomal aberrations. Chromosomal aberrations should be excluded in patients with early-onset movement disorders and concomitant dysmorphic features and/or intellectual disability. It is important to include this cause of movement disorders in future classifications. aCGH can be a valuable diagnostic tool in the evaluation of movement disorder aetiology.

Children with corpus callosum anomalies: clinical characteristics and developmental outcomes

“…This mutation has been found in infants with ACC and in adolescents with severe developmental regression, epilepsy and leukodystrophy [36,37]. It has also been described in paediatric patients as BANDDOS, a syndrome consisting of brain abnormalities including ACC, neurodegeneration and dysosteosclerosis [34,35].…”

“…Defects of the CC, neurodevelopmental delay, epilepsy, and dysmorphism are frequently reported in patients presenting with various types of dystonia and other hereditary movement disorders with childhood onset. Results of the latest gene analyses have revealed varied molecular bases of these disorders [34,35]. In neurodegenerative diseases with onset in the 4 th and 5 th decades of life, in which brain macrophages known as microglia play an important role in their formation, defects of the CC may also be present.…”

Establishment of a Cre-loxP System Based on a Leaky LAC4 Promoter and an Unstable panARS Element in Kluyveromyces marxianus

“…Approximately 15-20% of patients with intellectual disability and autism spectrum disorders have a clinically relevant chromosome rearrangement [61]. Recent studies reported that the deletion and the duplication in genomes are potentially pathogenic factors in dystonia and parkinsonism [62]. In addition to driving many diseases, chromosomal rearrangements also contribute to genetic diversity and evolution, which are the basics of phenotypic diversification and environmental adaptability.…”

Adolescent Verbal Memory as a Psychosis Endophenotype: A Genome-Wide Association Study in an Ancestrally Diverse Sample

“…Finally, we did not analyse chromosomal aberrations (e.g., copy number variants) in our study as this requires a different technique. As chromosomal aberrations have been associated with cognitive impairment [ 24 , 25 ], future studies should continue to investigate their influence on specific cognitive domains, such as verbal memory.…”

“…Previous GWASs have found over 200 loci associated with general cognitive ability, as well as its negative genetic correlation with schizophrenia [ 20 , 21 , 22 ]. Chromosomal aberrations, including copy number variants, can also influence cognition [ 23 , 24 , 25 ]. Nevertheless, the population correlation between verbal memory and general cognitive ability at the phenotypic level was estimated to be 0.24 to 0.39, indicating that they are overlapping but different constructs [ 26 ].…”